Linked Data
MyVariant Identifiers:
chr21:g.43172105G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172105G>T , CM000683.2:g.43172105G>T | GRCh38 |
| NG_009823.1:g.8075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.347G>T MANE Select | ENSP00000291554.2:p.Arg116Leu | |
| ENST00000398132.1:c.236G>T | ENSP00000381200.1:p.Arg79Leu | |
| ENST00000398133.5:c.287G>T | ENSP00000381201.1:p.Arg96Leu | |
| ENST00000468016.1:n.448G>T | ||
| ENST00000482775.1:n.428G>T | ||
| NM_000394.3:c.347G>T | NP_000385.1:p.Arg116Leu | |
| XM_005261093.2:c.236G>T | XP_005261150.1:p.Arg79Leu | |
| NM_001363766.1:c.236G>T | NP_001350695.1:p.Arg79Leu | |
| NM_000394.4:c.347G>T MANE Select | NP_000385.1:p.Arg116Leu |